Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.
A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs.
Van Maldergem
L
L
Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval, Belgium.
Gillerot
Y
Y
Godhaird
M
M
Nemec
E
E
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D003318:Corneal Opacity / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D006943:Hyperglycemia / Q000235:genetics; D007231:Infant, Newborn; D008297:Male